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    BCL2L2-PABPN1 BCL2L2-PABPN1 readthrough [ Homo sapiens (human) ]

    Gene ID: 100529063, updated on 2-Nov-2024

    Summary

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    Official Symbol
    BCL2L2-PABPN1provided by HGNC
    Official Full Name
    BCL2L2-PABPN1 readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:42959
    See related
    Ensembl:ENSG00000258643 AllianceGenome:HGNC:42959
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This locus represents naturally occurring read-through transcription between the neighboring BCL2L2 (BCL2-like 2) and PABPN1 (poly(A) binding protein, nuclear 1) genes on chromosome 14. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010]
    Expression
    Ubiquitous expression in testis (RPKM 56.2), prostate (RPKM 46.1) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See BCL2L2-PABPN1 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (23306833..23326163)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17507847..17527178)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23776042..23795372)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ring finger protein 212B Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:23748940-23749440 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:23749441-23749941 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8168 Neighboring gene homeobox and leucine zipper encoding Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:23762790-23763654 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:23764306-23764618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8169 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5605 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23776901-23777734 Neighboring gene protein phosphatase 1 regulatory subunit 3E Neighboring gene H3 histone pseudogene 37 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23789757-23790407 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23790419-23791230 Neighboring gene BCL2 like 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23791231-23792040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5608 Neighboring gene poly(A) binding protein nuclear 1 Neighboring gene solute carrier family 22 member 17 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23832478-23832978 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23832979-23833479 Neighboring gene embryonal Fyn-associated substrate

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    General protein information

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    Preferred Names
    BCL2L2-PABPN1 protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001199864.3 → NP_001186793.2  BCL2L2-PABPN1 protein isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL049829
      Related
      ENSP00000451320.1, ENST00000553781.5
      Conserved Domains (2) summary
      cd12550
      Location:200 → 275
      RRM_II_PABPN1; RNA recognition motif in type II polyadenylate-binding protein 2 (PABP-2) and similar proteins
      TIGR00865
      Location:11 → 145
      bcl-2; apoptosis regulator

    2. NM_001387340.1 → NP_001374269.1  BCL2L2-PABPN1 protein isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL049829
      Conserved Domains (2) summary
      TIGR00865
      Location:11 → 185
      bcl-2; apoptosis regulator
      cd12550
      Location:239 → 314
      RRM_II_PABPN1; RNA recognition motif in type II polyadenylate-binding protein 2 (PABP-2) and similar proteins

    3. NM_001387341.1 → NP_001374270.1  BCL2L2-PABPN1 protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL049829
      UniProtKB/TrEMBL
      A0A7I2V383
      Related
      ENSP00000503309.1, ENST00000678502.1
      Conserved Domains (2) summary
      TIGR00865
      Location:11 → 144
      bcl-2; apoptosis regulator
      cd12550
      Location:232 → 307
      RRM_II_PABPN1; RNA recognition motif in type II polyadenylate-binding protein 2 (PABP-2) and similar proteins

    4. NM_001387342.1 → NP_001374271.1  BCL2L2-PABPN1 protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL049829
      UniProtKB/TrEMBL
      A0A7I2V383
      Conserved Domains (2) summary
      TIGR00865
      Location:11 → 144
      bcl-2; apoptosis regulator
      cd12550
      Location:232 → 307
      RRM_II_PABPN1; RNA recognition motif in type II polyadenylate-binding protein 2 (PABP-2) and similar proteins

    5. NM_001387343.1 → NP_001374272.1  BCL2L2-PABPN1 protein isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL049829
      Conserved Domains (2) summary
      TIGR00865
      Location:11 → 144
      bcl-2; apoptosis regulator
      cd12550
      Location:232 → 307
      RRM_II_PABPN1; RNA recognition motif in type II polyadenylate-binding protein 2 (PABP-2) and similar proteins

    6. NM_001387344.1 → NP_001374273.1  BCL2L2-PABPN1 protein isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL049829
      Conserved Domains (2) summary
      TIGR00865
      Location:11 → 144
      bcl-2; apoptosis regulator
      cd12550
      Location:232 → 307
      RRM_II_PABPN1; RNA recognition motif in type II polyadenylate-binding protein 2 (PABP-2) and similar proteins

    7. NM_001387345.1 → NP_001374274.1  BCL2L2-PABPN1 protein isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL049829
      Conserved Domains (2) summary
      TIGR00865
      Location:11 → 145
      bcl-2; apoptosis regulator
      cd12550
      Location:200 → 275
      RRM_II_PABPN1; RNA recognition motif in type II polyadenylate-binding protein 2 (PABP-2) and similar proteins

    8. NM_001387346.1 → NP_001374275.1  BCL2L2-PABPN1 protein isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL049829
      Conserved Domains (2) summary
      TIGR00865
      Location:11 → 145
      bcl-2; apoptosis regulator
      cd12550
      Location:200 → 275
      RRM_II_PABPN1; RNA recognition motif in type II polyadenylate-binding protein 2 (PABP-2) and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      23306833..23326163
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      17507847..17527178
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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